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Primary cilia

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https://www.readbyqxmd.com/read/28103240/rfx2-stabilizes-foxj1-binding-at-chromatin-loops-to-enable-multiciliated-cell-gene-expression
#1
Ian K Quigley, Chris Kintner
Cooperative transcription factor binding at cis-regulatory sites in the genome drives robust eukaryotic gene expression, and many such sites must be coordinated to produce coherent transcriptional programs. The transcriptional program leading to motile cilia formation requires members of the DNA-binding forkhead (Fox) and Rfx transcription factor families and these factors co-localize to cilia gene promoters, but it is not clear how many cilia genes are regulated by these two factors, whether these factors act directly or indirectly, or how these factors act with specificity in the context of a 3-dimensional genome...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28100643/fluid-shear-stress-increases-transepithelial-transport-of-ca2-in-ciliated-distal-convoluted-and-connecting-tubule-cells
#2
Sami G Mohammed, Francisco J Arjona, Femke Latta, René J M Bindels, Ronald Roepman, Joost G J Hoenderop
In kidney, transcellular transport of Ca(2+) is mediated by transient receptor potential vanilloid 5 and Na(+)-Ca(2+) exchanger 1 proteins in distal convoluted and connecting tubules (DCT and CNT, respectively). It is not yet understood how DCT/CNT cells can adapt to differences in tubular flow rate and, consequently, Ca(2+) load. This study aims to elucidate the molecular mechanisms by which DCT/CNT cells sense fluid dynamics to control transepithelial Ca(2+) reabsorption and whether their primary cilia play an active role in this process...
January 18, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28096262/cilia-and-obesity
#3
Christian Vaisse, Jeremy F Reiter, Nicolas F Berbari
The ciliopathies Bardet-Biedl syndrome and Alström syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathways involved in the regulation of metabolism and energy homeostasis. Historically, the study of rare monogenetic disorders that present with obesity has informed our molecular understanding of the mechanisms involved in nonsyndromic forms of obesity. Here, we present a framework, based on genetic studies in mice and humans, of the molecular and cellular pathways underlying long-term regulation of energy homeostasis...
January 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28089251/mutations-in-mapkbp1-cause-juvenile-or-late-onset-cilia-independent-nephronophthisis
#4
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28087224/5-ht6-receptor-blockade-regulates-primary-cilia-morphology-in-striatal-neurons
#5
Matthew Brodsky, Adam J Lesiak, Alex Croicu, Nathalie Cohenca, Jane M Sullivan, John F Neumaier
The 5-HT6 receptor has been implicated in a variety of cognitive processes including habitual behaviors, learning, and memory. It is found almost exclusively in the brain, is expressed abundantly in striatum, and localizes to neuronal primary cilia. Primary cilia are antenna-like, sensory organelles found on most neurons that receive both chemical and mechanical signals from other cells and the surrounding environment; however, the effect of 5-HT6 receptor function on cellular morphology has not been examined...
January 10, 2017: Brain Research
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#6
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28067220/bi-and-uniciliated-ependymal-cells-define-continuous-floor-plate-derived-tanycytic-territories
#7
Zaman Mirzadeh, Yael Kusne, Maria Duran-Moreno, Elaine Cabrales, Sara Gil-Perotin, Christian Ortiz, Bin Chen, Jose Manuel Garcia-Verdugo, Nader Sanai, Arturo Alvarez-Buylla
Multiciliated ependymal (E1) cells line the brain ventricles and are essential for brain homeostasis. We previously identified in the lateral ventricles a rare ependymal subpopulation (E2) with only two cilia and unique basal bodies. Here we show that E2 cells form a distinct biciliated epithelium extending along the ventral third into the fourth ventricle. In the third ventricle floor, apical profiles with only primary cilia define an additional uniciliated (E3) epithelium. E2 and E3 cells' ultrastructure, marker expression and basal processes indicate that they correspond to subtypes of tanycytes...
January 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28041644/mutations-in-pih1d3-cause-x-linked-primary-ciliary-dyskinesia-with-outer-and-inner-dynein-arm-defects
#8
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X chromosome and is involved in the preassembly of both outer (ODA) and inner (IDA) dynein arms of cilia and sperm flagella. Loss-of-function mutations in PIH1D3 lead to absent ODAs and reduced to absent IDAs, causing ciliary and flagellar immotility...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28035124/your-epoch-is-not-for-trying-it-s-for-living-and-for-dying
#9
Leonid P Churilov
The article is devoted to biographies of three Russian physicians of the Silver Age (a period in the History of Russian culture between 1890 and 1917). They made early, significant and internationally recognized contribution into medical science and became eponymous, although social disasters of the twentieth century caused deep impact on their subsequent lives and careers, so their role was shadowed from global medical community. The article analyzes biographies and academic achievements of A-F.K. Siewert (aka: Zivert, Ziwert, von Siewert) (1872-1922), known for first description of the hereditary dyskinesia of cilia (as a triad of: situs inversus of the viscera, abnormal frontal sinuses producing sinusitis and bronchiectasis); S...
December 2016: Psychiatria Danubina
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#10
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28028031/hdac2-promotes-loss-of-primary-cilia-in-pancreatic-ductal-adenocarcinoma
#11
Tetsuo Kobayashi, Kosuke Nakazono, Mio Tokuda, Yu Mashima, Brian David Dynlacht, Hiroshi Itoh
Loss of primary cilia is frequently observed in tumor cells, including pancreatic ductal adenocarcinoma (PDAC) cells, suggesting that the absence of this organelle may promote tumorigenesis through aberrant signal transduction and the inability to exit the cell cycle. However, the molecular mechanisms that explain how PDAC cells lose primary cilia are still ambiguous. In this study, we found that inhibition or silencing of histone deacetylase 2 (HDAC2) restores primary cilia formation in PDAC cells. Inactivation of HDAC2 results in decreased Aurora A expression, which promotes disassembly of primary cilia...
December 27, 2016: EMBO Reports
https://www.readbyqxmd.com/read/28019670/smoothened-antagonists-reverse-homogentisic-acid-induced-alterations-of-hedgehog-signalling-and-primary-cilium-length-in-alkaptonuria
#12
Silvia Gambassi, Michela Geminiani, Stephen D Thorpe, Giulia Bernardini, Lia Millucci, Daniela Braconi, Maurizio Orlandini, Clare L Thompson, Elena Petricci, Fabrizio Manetti, Maurizio Taddei, Martin M Knight, Annalisa Santucci
Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates. These aggregates cause severe complications mainly at the level of joints with extensive degradation of the articular cartilage. Primary cilia have been demonstrated to play an essential role in development and the maintenance of articular cartilage homeostasis, through their involvement in mechanosignalling and Hedgehog signalling pathways...
December 26, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28001338/wdpcp-regulates-the-ciliogenesis-of-human-sinonasal-epithelial-cells-in-chronic-rhinosinusitis
#13
Yun Ma, Yueqi Sun, Lijie Jiang, Kejun Zuo, Hexin Chen, Jiebo Guo, Fenghong Chen, Yinyan Lai, Jianbo Shi
Damage to the mucociliary clearance system is a typical change in the pathogenesis in chronic rhinosinusitis. However, the mechanisms underlying cilia loss remain unclear. WDPCP is a key protein essential for ciliogenesis, and is also an effector of the planar cell polarity signaling system. In this study, we sought to determine the role of WDPCP in cilia loss in patients with chronic rhinosinusitis. We demonstrated the expression of WDPCP in human sinonasal epithelium from patients with chronic rhinosinusitis and control subjects...
December 21, 2016: Cytoskeleton
https://www.readbyqxmd.com/read/27999656/small-gtpase-arl6-controls-rh30-rhabdomyosarcoma-cell-growth-through-ciliogenesis-and-hedgehog-signaling
#14
Xiaotong Liu, Qiuhong Shen, Tingting Yu, Huijie Huang, Ziyu Zhang, Jie Ding, Ying Tang, Ning Xu, Shen Yue
BACKGROUND: Rhabdomyosarcoma (RMS) originates from skeletal muscle precursors that fail to differentiate. Hedgehog (Hh) signaling and primary cilia contribute to the pathobiology of RMS. RESULTS: Here we showed ADP ribosylation factor like GTPase 6 (ARL6) localizes at the base of primary cilium, controls ciliogenesis and Hh signaling. The transcription of Arl6 is dynamic during the differentiation of myoblasts, companying with the growth and elimination of primary cilia...
2016: Cell & Bioscience
https://www.readbyqxmd.com/read/27999145/progress-in-ciliary-ion-channel-physiology
#15
Juan Lorenzo Pablo, Paul G DeCaen, David E Clapham
Mammalian cilia are ubiquitous appendages found on the apical surface of cells. Primary and motile cilia are distinct in both morphology and function. Most cells have a solitary primary cilium (9+0), which lacks the central microtubule doublet characteristic of motile cilia (9+2). The immotile primary cilia house unique signaling components and sequester several important transcription factors. In contrast, motile cilia commonly extend into the lumen of respiratory airways, fallopian tubes, and brain ventricles to move their contents and/or produce gradients...
January 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/27993979/mtorc1-signaling-and-primary-cilia-are-required-for-brain-ventricle-morphogenesis
#16
Philippe Foerster, Marie Daclin, Shihavuddin Asm, Marion Faucourt, Alessandra Boletta, Auguste Genovesio, Nathalie Spassky
Radial glial cells (RCGs) are self-renewing progenitor cells that give rise to neurons and glia during embryonic development. Throughout neurogenesis, these cells contact the cerebral ventricles and bear a primary cilium. Although the role of the primary cilium in embryonic patterning has been studied, its role in brain ventricular morphogenesis is poorly characterized. Using conditional mutants, we show that the primary cilia of radial glia determine the size of the surface of their ventricular apical domain through regulation of the mTORC1 pathway...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27979967/daz-interacting-protein-1-dzip1-phosphorylation-by-polo-like-kinase-1-plk1-regulates-the-centriolar-satellites-localization-of-the-bbsome-during-the-cell-cycle
#17
Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y Cheng, Qing Jiang, Chuanmao Zhang
The function of the primary cilia, which is assembled in most vertebrate cells, is achieved by transport in and out of kinds of signaling receptors. The BBSome protein complex could recognize and target membrane proteins to the cilia, but how the BBSome itself is transported into the cilia is poorly understood. Here we demonstrate that the centrosome protein Dzip1 mediates the assembly of the BBSome-Dzip1-PCM1 complex in the centriolar satellites (CS) at the G0 phase for ciliary translocation of the BBSome...
December 15, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27979861/bmi-1-extends-proliferative-potential-of-human-bronchial-epithelial-cells-whilst-retaining-their-mucociliary-differentiation-capacity
#18
Mustafa Mohamed Munye, Amelia Shoemark, Robert A Hirst, Juliette M Delhove, Tyson V Sharp, Tristan R McKay, Chistopher O'Callaghan, Deborah L Baines, Steven J Howe, Stephen L Hart
Air-liquid interface (ALI) culture of primary airway epithelial cells enables mucociliary differentiation providing an in vitro model of the human airway but their proliferative potential is limited. To extend proliferation, these cells were previously transduced with viral oncogenes or mouse Bmi-1 + hTERT but the resultant cell lines did not undergo mucociliary differentiation. We hypothesised that use of human BMI-1 alone would increase the proliferative potential of bronchial epithelial cells while retaining their mucociliary differentiation potential...
December 15, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27976831/the-c-terminal-tails-of-heterotrimeric-kinesin-2-motor-subunits-directly-bind-to-%C3%AE-tubulin1-possible-implications-for-cilia-specific-tubulin-entry
#19
Mukul Girotra, Shalini Srivastava, Anuttama Kulkarni, Ayan Barbora, Kratika Bobra, Debnath Ghosal, Pavithra Devan, Amol Aher, Akanksha Jain, Dulal Panda, Krishanu Ray
The assembly of microtubule-based cytoskeleton propels the cilia and flagella growth. Previous studies have indicated that the kinesin-2 family motors transport tubulin into the cilia through intraflagellar transport. Here, we report a direct interaction between the C-terminal tail fragments of heterotrimeric kinesin-2 and α-tubulin1 isoforms in vitro. Blot overlay screen, affinity purification from tissue extracts, cosedimentation with subtilisin-treated microtubule and LC-ESI-MS/MS characterization of the tail-fragment-associated tubulin identified an association between the tail domains and α-tubulin1A/D isotype...
December 15, 2016: Traffic
https://www.readbyqxmd.com/read/27974638/untangling-ciliary-access-and-enrichment-of-two-rhodopsin-like-receptors-using-quantitative-fluorescence-microscopy-reveals-cell-specific-sorting-pathways
#20
Ivayla I Geneva, Han Yen Tan, Peter D Calvert
Resolution limitations of optical systems are major obstacles for determining if proteins are enriched within cell compartments. Here we employ an approach to determine the degree of membrane protein ciliary enrichment that quantitatively accounts for the differences in sampling of the ciliary and apical membranes inherent to confocal microscopes. Theory shows that cilia will appear more than threefold brighter than the surrounding apical membrane when the densities of fluorescently labeled proteins are the same, thus providing a benchmark for ciliary enrichment...
December 14, 2016: Molecular Biology of the Cell
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